Custom Ampliseq Targeted Sequencing Panel for Orphan Pediatric Retinal Diseases
Book Title
Advances in Vision Research, Volume IV From Basic to Translational Research — Developing Diagnostics and Therapeutics for Genetic Eye Diseases
Files
Editors
Gyan Prakash, Takeshi Iwata
Description
Among the entire group of inherited retinal degenerations (IRDs), some genetic conditions are even more rare than retinitis pigmentosa. Two categories that impact the retinal vasculature and retinal layer adhesion are very rare. Familial Exudative Vitreo-Retinopathy (FEVR), Norrie Disease (ND), and Persistent Fetal Vascular Syndrome (PFVS) are caused by variants in several genes required for the normal function of retinal vascular endothelial cells. These include Frizzled-4 (FZD4), Norrin (or Norrie Disease Protein, NDP), Tetra-Spanin-12 (TSPAN-12), beta-Catenin (CTNNB1), Zinc-Finger. 408 (ZNF-408), and Kinesin-11 (KIF-11). Loss of functional Retinoschisis protein (RS1) causes X-linked Retinoschisis (XLRS) with the formation of liquid-filled separations between the inner and outer nuclear layers of the neural retina. To facilitate greater access to genetic testing for these conditions in the United States where this testing is not supported by health insurance, and potentially to benefit the adoption of more economical genetic testing in less developed economies, we developed a custom-targeted panel to sequence these eight genes at a very low cost compared to previous testing methods. Using Illumina Ampliseq panel design, and the iSeq-100 sequencing system, any collaboration of a basic science lab and an ophthalmology clinic can sequence test these eight genes completely in-house without the need to rely upon access to large DNA-sequencing providers.
First Page
69
Last Page
83
ISBN
9789819944361
Publication Date
6-4-2024
Publisher
Springer Singapore
City
Singapore
Disciplines
Ophthalmology
Recommended Citation
Mitton KP, Dailey W, Abdelmessih G, Stepanian R, Santos A, Jeong D et al [Capone Jr, A] Custom ampliseq targeted sequencing panel for orphan pediatric retinal diseases. In: Prakash, G., Iwata, T. (eds) Advances in vision research, volume iv. Essentials in Ophthalmology. Singapore: Springer, 2024, p.69-83